Genetic Testing for Mendelian Disorders Flashcards
1
Q
what is a gene
A
asequence of nucleotides forming part of a chrosomose
2
Q
reference genome/assembly
A
a nucleotide sequence database which represents a set of genes
- but do not accurately represent an individual’s set of genes
3
Q
what does TGS do
A
determines the order of nucleotides in a sequence
4
Q
uses of TGS -3
A
- to identify known familial variants
- to validate results
- to sequence individual genes
5
Q
sanger sequencing characteristics
A
- one or two genes at a time
- predictable outcome
-costly, time consuming - high certainity of results
- limited by size of the DNA fragment
6
Q
benefits of NGS
A
- able to identify mutations in rare genes
- identify disease modifiers
- identify gene interactions
7
Q
when do we use gene panel testing
A
muscular atrophy and familial cancer
8
Q
when is panel testing useful
A
- if phenotypes are distinct
- multiple genes are known to cause similar phenotype
9
Q
WES
A
analyses the protein coding regions of the genome only
10
Q
indications of WES
A
- poorly defined phenotype
- negative gene panel or microarray
11
Q
challenges of WES
A
- interpretation is challenging bc it generates data that is difficult to intrepret
12
Q
WGS advantage
A
more comprehensive
13
Q
WGS disadvantage
A
- large data and large number of variants
- intrepretation and analysis is complex
14
Q
what does WGS detect -DBS
A
- deep intronic mutations
- breakpoints
- structural rearrangements
15
Q
VUS
A
- identifies variants with unknown effects or pathogenecity
- but there is lack of african data
16
Q
incidental findings of NGS
A
- unrelated to the indication, but may be of medical value to the patient
17
Q
4 conditions that need survelliance
A
- marfan syndrome
- inherent cancer
- FAMILIAL hypercholesteraemia
- cardiomyopathy
